Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

BACKGROUND: In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetics approach to enhance gene discovery and molecular diagnostics. METHODS: We con...

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Detalles Bibliográficos
Autores principales: Yuan, Bo, Schulze, Katharina V., Assia Batzir, Nurit, Sinson, Jefferson, Dai, Hongzheng, Zhu, Wenmiao, Bocanegra, Francia, Fong, Chin-To, Holder, Jimmy, Nguyen, Joanne, Schaaf, Christian P., Yang, Yaping, Bi, Weimin, Eng, Christine, Shaw, Chad, Lupski, James R., Liu, Pengfei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526336/
https://www.ncbi.nlm.nih.gov/pubmed/36180924
http://dx.doi.org/10.1186/s13073-022-01113-y

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